Canonical Allele Identifier: CA382834531

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118362028C>T (hg19) ; chr11:g.118491313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491313C>T , CM000673.2:g.118491313C>T	GRCh38
NC_000011.9:g.118362028C>T , CM000673.1:g.118362028C>T	GRCh37
NC_000011.8:g.117867238C>T	NCBI36
NG_027813.1:g.59824C>T , LRG_613:g.59824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531904.7:c.4913C>T	ENSP00000432391.3:p.Thr1638Ile
ENST00000710560.1:c.4909+4C>T	ENSP00000518343.1:n.4909+4C>T
ENST00000685498.1:c.590C>T	ENSP00000509293.1:p.Thr197Ile
ENST00000691053.1:c.4810+4C>T	ENSP00000509168.1:n.4810+4C>T
ENST00000389506.10:c.4810+4C>T	ENSP00000374157.5:n.4810+4C>T
ENST00000534358.8:c.4814C>T MANE Select	ENSP00000436786.2:p.Thr1605Ile
ENST00000649699.1:c.4696+4C>T	ENSP00000496927.1:n.4696+4C>T
ENST00000389506.9:c.4810+4C>T	ENSP00000374157.5:n.4810+4C>T
ENST00000392873.3:c.946+4C>T	ENSP00000376612.3:n.946+4C>T
ENST00000534358.5:c.4814C>T	ENSP00000436786.1:p.Thr1605Ile
NM_001197104.1:c.4814C>T , LRG_613t1:c.4814C>T	NP_001184033.1:p.Thr1605Ile
NM_005933.3:c.4810+4C>T	NP_005924.2:n.4810+4C>T
XM_006718839.2:c.2297C>T	XP_006718902.2:p.Thr766Ile
XM_011542829.1:c.4913C>T	XP_011541131.1:p.Thr1638Ile
XM_011542830.1:c.4910C>T	XP_011541132.1:p.Thr1637Ile
XM_011542831.1:c.4909+4C>T	XP_011541133.1:n.4909+4C>T
XM_011542832.1:c.2720C>T	XP_011541134.1:p.Thr907Ile
XM_011542833.1:c.2396C>T	XP_011541135.1:p.Thr799Ile
XM_006718839.3:c.2297C>T	XP_006718902.2:p.Thr766Ile
XM_011542829.2:c.4913C>T	XP_011541131.1:p.Thr1638Ile
XM_011542830.2:c.4910C>T	XP_011541132.1:p.Thr1637Ile
XM_011542831.2:c.4909+4C>T	XP_011541133.1:n.4909+4C>T
XM_011542833.2:c.2396C>T	XP_011541135.1:p.Thr799Ile
NM_001197104.2:c.4814C>T MANE Select	NP_001184033.1:p.Thr1605Ile
NM_005933.4:c.4810+4C>T	NP_005924.2:n.4810+4C>T